ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499238217
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028205
ClinVar RCV Id:
RCV001329194
RCV001388993
RCV004526111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Ser178Leu
CA8069089
NM_001126108.2:c.533C>T